Article

Validating gene-phenotype associations using relationships in the UMLS

2020-07-30

Abstract excerpt

<h4>Objective</h4> Large scale next-generation sequencing of population cohorts paired with patients’ electronic health records (EHR) provides an excellent resource for the study of gene-disease associations. To validate those associations, researchers often consult databases that identify relationships between genes of interest and relevant disease phenotypes, which we refer to as simply “phenotypes”. However, m...

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Literature Corpus work: 3c48e2f5-75f9-5041-b5e9-b35df364e103
DOI: 10.1101/2020.07.29.226993

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